DISEASE SCANNER
Global Incurable Diseases Tracker
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Metabolic Disorder
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
HIGH SEVERITY
The most common fatty acid oxidation disorder, caused by ACADM gene mutations. Presents with hypoketotic hypoglycemia during fasting or illness. Can lead to seizures, coma, and sudden death if untreated. Excellent prognosis with proper management.
Global Affected
150.0K
Countries
17
Symptoms
Hypoketotic hypoglycemia
Vomiting
Lethargy
Seizures
Coma
Hepatomegaly
Acute metabolic decompensation
Sudden death (untreated)
Treatment Options
Avoid fasting
Frequent feeding
Carnitine supplementation
IV glucose during illness
Emergency protocol
Low-fat diet
MCT oil avoidance
Risk Factors
1Autosomal recessive inheritance
2ACADM gene mutations
3Northern European ancestry
4Consanguinity
5Family history
Diagnostic Methods
- 1Newborn screening
- 2Acylcarnitine profile
- 3Urinary organic acids
- 4Genetic testing
- 5Enzyme assay
- 6Molecular analysis
Prognosis
Excellent with early diagnosis and management; normal development and lifespan. Risk of metabolic crises during illness if not managed.
Prevention
- Newborn screening
- Genetic counseling
- Avoidance of fasting
- Emergency letter/protocol
- Family screening
Research Status
Avoid fasting and Frequent feeding are primary treatments. Research focuses on improved therapies and outcomes.
Affected Countries
Sources
- https://rarediseases.org/rare-diseases/mcad-deficiency
- https://www.nichd.nih.gov/health/topics/mcad
- https://www.ncbi.nlm.nih.gov/books/NBK1424
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.